A new syndrome of aphalangy, hemivertebrae, and urogenital-intestinal dysgenesis.
Two cases of aphalangy, hemivertebrae, and urogenital-intestinal dysgenesis in a sibship are described. This constellation of malformations may represent a previously undescribed autosomal recessive trait.
Johnson
V P
VP
Department of Obstetrics and Gynecology, University of South Dakota School of Medicine, Vermillion.
Munson
D P
DP
D000015:Abnormalities, Multiple / Q000235:genetics*; D001006:Anus, Imperforate / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D004480:Ectromelia / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005808:Genes, Recessive; D005836:Genitalia, Female / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D013131:Spine / Q000002:abnormalities*; D014034:Toes / Q000002:abnormalities